Implementing Universal Lynch Syndrome Screening across Multiple Healthcare Systems: Identifying Strategies to Facilitate and Maintain Programs in Different Organizational Contexts

项目总结/摘要 Lynch综合征（LS）是遗传性结直肠癌风险的最常见形式。人 Lynch综合征也增加了子宫内膜、卵巢、胃、小肠和 肾癌重要的是，有强有力证据的完善的临床指南， 癌症治疗、筛查和预防。识别有关个人 LS是通过各种技术完成的，包括家族史和病史 评估、计算模型或肿瘤测试。所有结直肠癌的系统筛查 LS的肿瘤首先由遗传应用实践评估推荐， 2009年，该工作组被指定为高度优先事项。 国家科学院，工程和医学工作组和蓝色 功能区面板。这对降低癌症发病率和死亡率的潜在公共卫生影响 干预支持这一优先事项，因为有效实施LS筛查将有助于满足 癌症登月计划的目标，并展示了精准医疗的前景。 目前，LS筛查在医疗保健系统中的实施仍然是次优的， 各种各样的原因。一次总付筛查涉及多个部门的协调， 这在大型、复杂的医疗保健系统中通常很困难。 因此，本项目的总体目标是利用实施科学的工具， 描述、解释和比较LS筛查中的决策和其他变化 在多个医疗保健系统中实现，以在真实的世界环境中创建和评估 一个组织工具包，以促进一次总付筛查的实施。我们的具体目标是（1） 描述多个医疗保健系统中LS筛查实施的变化;然后（2） 解释实践变化并确定与最佳实施相关的因素;以及（3） 确定不同LS筛查方案的相对有效性、效率和成本， 医疗保健系统;最后（4）在自然环境中开发和测试组织 LS筛选工具包。该工具包将有助于有效实施一次总付筛查 方案;最终防止病人及其家属遭受不必要的痛苦， 可预防的癌症，减少医疗保健系统成本的浪费，并为以下战略提供信息： 促进精准医疗的承诺。

Project Summary/Abstract Lynch syndrome (LS) is the most common form of inherited colorectal cancer risk. People with Lynch syndrome are also at increased risk for endometrial, ovarian, gastric, small bowel, and renal cancers. Importantly, well-established clinical guidelines with strong evidence exist for cancer treatment, screening, and prevention in individuals with LS. Identification of individuals with LS is accomplished through a variety of techniques, including family and medical history evaluation, computational models, or tumor testing. The systematic screening of all colorectal tumors for LS was first recommended by the Evaluation of Genetic Application in Practice and Prevention (EGAPP) working group in 2009 and has been designated high priority by the National Academies of Science, Engineering, and Medicine working group and by the Blue Ribbon Panel. The potential public health impact to reduce cancer morbidity and mortality of this intervention supports this priority, as effective implementation of LS screening will help meet the goals of the Cancer Moonshot as well as demonstrate the promise of precision medicine. Currently, implementation of LS screening in healthcare systems remains suboptimal for a variety of reasons. LS screening involves the coordination of multiple departments and individuals across an organization, which is often difficult in large, complex, healthcare systems. Therefore, the overarching goal of this project is to utilize tools from implementation science to describe, explain, and compare decision making and other variations in LS screening implementation across multiple healthcare systems to create and evaluate in a real world setting an organizational toolkit to facilitate implementation of LS screening. Our specific aims are to (1) Describe variation in LS screening implementation across multiple healthcare systems; then (2) Explain practice variation and determine factors associated with optimal implementation; and (3) Determine the relative effectiveness, efficiency, and costs of different LS screening protocols by healthcare system; and finally to (4) Develop and test in a natural environment an organizational toolkit for LS screening. This toolkit will enable effective implementation of LS screening programs; ultimately preventing needless suffering of patients and their family members from preventable cancers, decreasing waste in healthcare system costs, and informing strategies to facilitate the promise of precision medicine.